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JOURNAL ARTICLE
Armin Bachhuber
Headache is worldwide one of the leading reasons to consult a general practitioner or a neurologist. In addition to the medical history and results of laboratory parameters, imaging represents one of the most important diagnostic steps. As there is a myriad of possible causes, it is nearly impossible to cover the whole spectrum of this topic. This article summarizes the most important morphological imaging findings and their pitfalls.
April 22, 2024: Radiologie (Heidelb)
#2
JOURNAL ARTICLE
Song Wang, Runcheng He, Jian Xia, Wenping Gu, Jing Li, Huan Yang, Qing Huang
RATIONALE: White matter lesions (WMLs) are structural changes in the brain that manifest as demyelination in the central nervous system pathologically. Vasogenic WMLs are the most prevalent type, primarily associated with advanced age and cerebrovascular risk factors. Conversely, immunogenic WMLs, typified by multiple sclerosis (MS), are more frequently observed in younger patients. It is crucial to distinguish between these 2 etiologies. Furthermore, in cases where multiple individuals exhibit WMLs within 1 family, genetic testing may offer a significant diagnostic perspective...
April 5, 2024: Medicine (Baltimore)
#3
JOURNAL ARTICLE
Lukasz S Wylezinski, Cheryl L Sesler, Guzel I Shaginurova, Elena V Grigorenko, Jay G Wohlgemuth, Franklin R Cockerill, Michael K Racke, Charles F Spurlock
This study aims to identify RNA biomarkers distinguishing neuromyelitis optica (NMO) from relapsing-remitting multiple sclerosis (RRMS) and explore potential therapeutic applications leveraging machine learning (ML). An ensemble approach was developed using differential gene expression analysis and competitive ML methodologies, interrogating total RNA sequencing datasets from peripheral whole blood of treatment-naïve RRMS and NMO patients and healthy individuals. Pathway analysis of candidate biomarkers informed the biological context of disease, transcription factor activity, and small-molecule therapeutic potential...
March 22, 2024: Journal of Molecular Diagnostics: JMD
#4
REVIEW
Luis Eduardo Ramos Chaer, Jakeline Martins de Mendonça, Maria Cristina Del Negro, Ricardo Titze-de-Almeida, Nícolas Philippe Balduino Nogueira, Priscila Mara Provetti, Pedro Renato de Paula Brandão, Diógenes Diego de Carvalho Bispo, Gabriela Billafan Ferreira, Ingrid Faber, Taina Barreto Cavalcante, Tarso Adoni, Juliana F Mazzeu, Felipe von Glehn
Multiple Sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) characterized by damage to the myelin sheaths of oligodendrocytes. Currently, there is no specific biomarker to identify the disease; however, a diagnostic criterion has been established based on patient's clinical, laboratory, and imaging characteristics, which assists in identifying this condition. The primary method for diagnosing MS is the McDonald criteria, first described in 2001 and revised in the years 2005, 2012, and 2017...
April 15, 2024: Journal of the Neurological Sciences
#5
JOURNAL ARTICLE
Alexandra B Kornbluh, Victor M Campano, Claire Har, Pallavi Dwivedi, William Suslovic, Leigh Sepeta, Ilana Kahn
BACKGROUND: Eosinophils in cerebrospinal fluid (CSF) are an uncommon finding most often associated with parasitic infections, but have also been described in some neuroinflammatory disorders. Eosinophilic infiltration is not thought to be a typical feature of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). We aim to describe the rate of CSF eosinophil positivity in a cohort of pediatric MOGAD patients. METHODS: Single-center retrospective chart review of pediatric MOGAD patients...
March 9, 2024: Multiple Sclerosis and related Disorders
#6
JOURNAL ARTICLE
Renan Barros Domingues, Márcio Vega Dos Santos, Daiane Salomão, Carlos Senne
BACKGROUND: Oligoclonal bands (OCBs) and Kappa free light chains (FLCs) in the cerebrospinal fluid (CSF) are sensitive markers of intrathecal immunoglobulin (Ig)G synthesis in patients with multiple sclerosis. OBJECTIVE: To evaluate the concordance rate between OCBCs and the Kappa index (KI) in patients with suspected multiple sclerosis (MS). METHODS: Patients with suspected MS were referred to a specialized CSF laboratory as part of their diagnostic investigation...
March 2024: Arquivos de Neuro-psiquiatria
#7
JOURNAL ARTICLE
M Johnsson, Y T Stenberg, H H Farman, K Blennow, H Zetterberg, C Malmeström, S Sandgren, I Rosenstein, J Lycke, M Axelsson, L Novakova
BACKGROUND: Serum neurofilament light (sNfL) reflects neuroaxonal damage and is now used as an outcome in treatment trials of relapsing-remitting multiple sclerosis (RRMS). However, the diagnostic properties of sNfL for monitoring disease activity in individual patients warrant further investigations. METHOD: Patients with suspected relapse and/or contrast-enhancing lesions (CELs) were consecutively included and performed magnetic resonance imaging (MRI) of the brain at baseline and weeks 28 and 48...
March 13, 2024: Multiple Sclerosis: Clinical and Laboratory Research
#8
JOURNAL ARTICLE
Elia Sechi, Mariangela Puci, Maria Ida Pateri, Pietro Zara, Sabrine Othmani, Stefano Sotgiu, Maria Valeria Saddi, Stefania Leoni, Giuseppe Fenu, Maurizio Melis, Giovanni Sotgiu, Paolo Solla, Eleonora Cocco, Jessica Frau
PURPOSE: The Italian Island of Sardinia (population, 1,578,146) is recognized for the high risk of multiple sclerosis (MS) but the epidemiological burden of other less common demyelinating diseases of the central nervous system (CNS), such as aquaporin-4-IgG-positive neuromyelitis optica spectrum disorder (AQP4-IgG+NMOSD), is unknown. In this study, we determined the incidence and prevalence of AQP4-IgG+NMOSD in Sardinia over a ten-year study period (2013-2022). METHODS: Patients with a diagnosis of AQP4-IgG+NMOSD (per 2015 IPND diagnostic criteria) were retrospectively identified using two sources: (1) Archives of the reference and only laboratory for AQP4-IgG testing in Sardinia; and (2) medical records of the four MS units in the island...
February 28, 2024: Multiple Sclerosis and related Disorders
#9
JOURNAL ARTICLE
Yanxiang Chen, Chongliang Luo, Guonan Zhou, Hui Wang, Kai Dai, Weijuan Wu, Siguang Wang, Zhihui Su, Fuhua Peng, Ying Jiang
OBJECTIVE: The differential diagnosis between autoimmune glial fibrillary acidic protein astrocytopathy (AGFAPA) mimicking tuberculous meningitis and tuberculous meningitis (TBM) remains challenging in clinical practice. This study aims to identify the clinical, laboratory parameters, and clinical score systems that may be helpful in differentiating AGFAPA from TBM. METHOD: Overall 22 AGFAPA patients who were initially misdiagnosed as TBM (AGFAPA-TBM) and 30 confirmed TBM patients were included...
February 27, 2024: Multiple Sclerosis and related Disorders
#10
JOURNAL ARTICLE
Mouna Maaloul, Sabrina Mejdoub, Salma Sakka, Hend Hachicha, Mariem Dammak, Faten Koubaa, Chokri Mhiri, Hatem Masmoudi, Sawsan Feki
Cerebrospinal fluid (CSF) isoelectrofocusing (IEF) is considered as the gold standard for detecting an intrathecal synthesis of IgG, which is a hallmark of multiple sclerosis (MS). This corresponds to the presence of CSF-restricted IgG oligoclonal bands (OCB) (typically type 2 pattern). Moreover, this technique can also detect a systemic immune reaction with passive transfer of IgG (type 3 and 4 patterns) for which the clinical relevance is less understood. The aim of our study was to determine the frequency and disease associations of IEF type 3 and 4 patterns and to investigate the potential usefulness of including quantitative data (IgG index and Reiber Diagram) in interpreting such IEF profiles...
February 18, 2024: Multiple Sclerosis and related Disorders
#11
JOURNAL ARTICLE
Aaron E Miller
The requirement to demonstrate dissemination in time (DIT) in order to diagnose multiple sclerosis (MS) has been enshrined in the literature since earliest efforts to establish diagnostic critera. However, various diagnostic criteria over the years, including the 2017 McDonald criteria, have inconsistently utilized this concept. This Viewpoint contends that current criteria for DIT are inadequate and sometimes inappropriate. It recommends continuing to consider DIT in the diagnosis of MS, but advocates utilizing all available information with high specificity for the disease, including the presence of large numbers of typical lesions, to make the diagnosis...
February 27, 2024: Multiple Sclerosis: Clinical and Laboratory Research
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REVIEW
Avanthika Satish Kumar, Sneha Venkatesalu, Shanmugapriya Dilliyappan, Ajay Prakash Pasupulla, Lavanya Prathap, Thirunavukkarasu Palaniyandi, Gomathy Baskar, Maddaly Ravi, Abimanyu Sugumaran
The challenges in the management of human diseases are largely determined by the precision, speed and ease of diagnostic procedures available. Developments in biomedical engineering technologies have greatly helped in transforming human health care, especially for disease diagnosis which in turn lead to better patient outcomes. One such development is in the form of microfluidic chip technology which has transformed various aspects of human health care. We present in this review, a comprehensive account on the utility of microfluidic chip technologies for the diagnosis of autoimmune disorders, cardiovascular diseases (CVDs), infectious diseases, and neurodegenerative conditions...
February 21, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
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JOURNAL ARTICLE
Badrieh Fazeli, Nerea Gómez de San José, Sarah Jesse, Makbule Senel, Patrick Oeckl, Deborah K Erhart, Albert C Ludolph, Markus Otto, Steffen Halbgebauer, Hayrettin Tumani
OBJECTIVES: Increased levels of glial fibrillary acidic protein (GFAP) in blood have been identified as a valuable biomarker for some neurological disorders, such as Alzheimer's disease and multiple sclerosis. However, most blood GFAP quantifications so far were performed using the same bead-based assay, and to date a routine clinical application is lacking. METHODS: In this study, we validated a novel second-generation (2nd gen) Ella assay to quantify serum GFAP...
February 7, 2024: Clinical Chemistry and Laboratory Medicine: CCLM
#14
REVIEW
B Yamout, M Al-Jumah, M A Sahraian, Y Almalik, J Al Khaburi, N Shalaby, S Aljarallah, S Bohlega, M Dahdaleh, A Almahdawi, S J Khoury, S Koussa, E Slassi, S Daoudi, H Aref, S Mrabet, M Zeineddine, M Zakaria, J Inshasi, R Gouider, R Alroughani
With evolving diagnostic criteria and the advent of new oral and parenteral therapies for Multiple Sclerosis (MS), most current diagnostic and treatment algorithms need revision and updating. The diagnosis of MS relies on incorporating clinical and paraclinical findings to prove dissemination in space and time and exclude alternative diseases that can explain the findings at hand. The differential diagnostic workup should be guided by clinical and laboratory red flags to avoid unnecessary tests. Appropriate selection of MS therapies is critical to maximize patient benefit...
March 2024: Multiple Sclerosis and related Disorders
#15
REVIEW
Angela Vidal-Jordana, Jaume Sastre-Garriga, Mar Tintoré, Àlex Rovira, Xavier Montalban
Current diagnostic criteria for multiple sclerosis (MS) do not consider the optic nerve as a typical topography for establishing the diagnosis. Recent studies have proved the utility of optic nerve magnetic resonance imaging, optical coherence tomography and visual evoked potentials in detecting optic nerve lesions during the early stages of MS. In addition, emerging evidence supports the inclusion of optic nerve topography as a fifth region to fulfil the dissemination in space criteria. Anticipating a modification in the McDonald criteria, it is crucial for neurologists to familiarize with the diagnostic properties of each test in detecting optic nerve lesions and understand how to incorporate them into the MS diagnostic process...
January 19, 2024: Multiple Sclerosis: Clinical and Laboratory Research
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JOURNAL ARTICLE
Tatchaporn Ongphichetmetha, Saharat Aungsumart, Sasitorn Siritho, Metha Apiwattanakul, Jantima Tanboon, Natthapon Rattanathamsakul, Naraporn Prayoonwiwat, Jiraporn Jitprapaikulsan
Tumefactive demyelinating lesions (TDL), characterized by large (≥ 2 cm) demyelinating lesions mimicking tumors, are a rare manifestation of the central nervous system inflammatory demyelinating diseases (CNS-IDD). Distinguishing TDL from other brain lesions can be challenging, often necessitating biopsy or advanced diagnostics. The natural history of TDL varies among races. This study aimed to assess demographics, clinical and radiological features, laboratory findings, management, and outcomes of Thai patients with TDL...
January 16, 2024: Scientific Reports
#17
REVIEW
Sotiria Stavropoulou De Lorenzo, Christos Bakirtzis, Natalia Konstantinidou, Evangelia Kesidou, Dimitrios Parissis, Maria Eleptheria Evangelopoulos, Dina Elsayed, Eman Hamdy, Sameh Said, Nikolaos Grigoriadis
The development and further optimization of the diagnostic criteria for multiple sclerosis (MS) emphasize the establishment of an early and accurate diagnosis. So far, numerous studies have revealed the significance of early treatment administration for MS and its association with slower disease progression and better late outcomes of the disease with regards to disability accumulation. However, according to current research results, both neuroinflammatory and neurodegenerative processes may exist prior to symptom initiation...
December 29, 2023: Journal of Clinical Medicine
#18
JOURNAL ARTICLE
Meltem Çobanoğulları Direk, Şeyda Besen, İbrahim Öncel, Ceren Günbey, Orhan Özdoğan, Leman Tekin Orgun, Sevim Sahin, Ali Cansu, Nihal Yıldız, Seda Kanmaz, Sanem Yılmaz, Hasan Tekgül, Dilşad Türkdoğan, Olcay Ünver, Gülten Öztürk Thomas, Salih Başıbüyük, Deniz Yılmaz, Ayşegül Neşe Kurt, Pembe Gültutan, Özlem Özsoy, Uluç Yiş, Semra Hız Kurul, Serdal Güngör, Bilge Özgör, Meral Karadağ, Nihal Olgaç Dündar, Pınar Gençpınar, Olgay Bildik, Sibğatullah Ali Orak, Çişil Çerçi Kabur, Bülent Kara, Ömer Karaca, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ünsal Yılmaz, Pakize Karaoğlu, Özlem Ersoy, Ayşe Tosun, Semra Büyükkorkmaz Öztürk, Deniz Yüksel, Ergin Atasoy, Kıvılcım Gücüyener, Miraç Yıldırım, Ömer Bektaş, Dilek Çavuşoğlu, Çoşkun Yarar, Olcay Güngör, Gülen Gül Mert, Esra Sarıgeçili, Selvinaz Edizer, İpek Dokurel Çetin, Seren Aydın, Betül Diler, Asena Ayça Özdemir, İlknur Erol, Çetin Okuyaz, Banu Anlar
BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1...
November 26, 2023: Multiple Sclerosis and related Disorders
#19
JOURNAL ARTICLE
Lynn Daboul, Carly M O'Donnell, Moein Amin, Paulo Rodrigues, John Derbyshire, Christina Azevedo, Amit Bar-Or, Eduardo Caverzasi, Peter A Calabresi, Bruce Ac Cree, Leorah Freeman, Roland G Henry, Erin E Longbrake, Jiwon Oh, Nico Papinutto, Daniel Pelletier, Vesna Prchkovska, Praneeta Raza, Marc Ramos, Rohini D Samudralwar, Matthew K Schindler, Elias S Sotirchos, Nancy L Sicotte, Andrew J Solomon, Russell T Shinohara, Daniel S Reich, Pascal Sati, Daniel Ontaneda
BACKGROUND: The central vein sign (CVS) is a proposed magnetic resonance imaging (MRI) biomarker for multiple sclerosis (MS); the optimal method for abbreviated CVS scoring is not yet established. OBJECTIVE: The aim of this study was to evaluate the performance of a simplified approach to CVS assessment in a multicenter study of patients being evaluated for suspected MS. METHODS: Adults referred for possible MS to 10 sites were recruited. A post-Gd 3D T2*-weighted MRI sequence (FLAIR*) was obtained in each subject...
December 13, 2023: Multiple Sclerosis: Clinical and Laboratory Research
#20
JOURNAL ARTICLE
Qiang Liu, Xiao Yang, Jingzi Zhang Bao, Boya Ma, Xiaoyan Niu, Xu Wang, Qing Zhang, Chao Quan
OBJECTIVE: This study presents a comprehensive analysis of the clinical characteristics of 31 patients exhibiting cerebrospinal fluid (CSF) and/or serum positivity for GFAP-IgG, with a specific emphasis on 24 cases demonstrating only GFAP-IgG positivity. The investigation thoroughly evaluates their clinical, radiological, and laboratory features, as well as treatment responses, with the objective of offering clinicians potential diagnostic and therapeutic approaches. METHODS: A total of 31 patients with GFAP-IgG in the CSF and/or serum were registered between August 2016 and August 2021 at the General Hospital of Ningxia Medical University and Huashan Hospital of Fudan University...
October 28, 2023: International Journal of Neuroscience
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